esv3310521
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,203
- Publication(s):1000 Genomes Project Consortium et al. 2010
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 84 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 17 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3310521 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 22,471,136 | 22,472,338 | 22,471,136 | 22,472,338 |
| esv3310521 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 22,451,774 | 22,452,976 | 22,451,774 | 22,452,976 |
| esv3310521 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 22,399,774 | 22,400,976 | 22,399,774 | 22,400,976 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7843521 | novel sequence insertion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7843521 | Remapped | Perfect | NC_000020.11:g.(22 471136_22472338)_( 22471136_22472338) ins1545 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 22,471,136 | 22,472,338 | 22,471,136 | 22,472,338 |
| essv7843521 | Remapped | Perfect | NC_000020.10:g.(22 451774_22452976)_( 22451774_22452976) ins1545 | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 22,451,774 | 22,452,976 | 22,451,774 | 22,452,976 |
| essv7843521 | Submitted genomic | NC_000020.9:g.(223 99774_22400976)_(2 2399774_22400976)i ns1545 | NCBI36 (hg18) | NC_000020.9 | Chr20 | 22,399,774 | 22,400,976 | 22,399,774 | 22,400,976 |